نتایج جستجو برای: pigmentary disorder

تعداد نتایج: 598061  

Journal: :Proceedings of the National Academy of Sciences 1942

Journal: :International Journal of Dermatology and Venereology 2019

Journal: :Journal of the American Academy of Dermatology 2006

Journal: :British Journal of Ophthalmology 1964

2017
Elizabeth H. Cusick Ashfaq A. Marghoob Ralph P. Braun

Laugier-Hunziker syndrome (LHS) is a rare condition characterized by acquired hyperpigmentation involving the lips, oral mucosa, acral surfaces, nails and perineum. While patients with LHS may manifest pigmentation in all of the aforementioned areas, most present with pigmentation localized to only a few of these anatomical sites. We herein report a patient exhibiting the characteristic pigment...

Journal: :Journal of medical genetics 1995
G Van Camp M N Van Thienen I Handig B Van Roy V S Rao A Milunsky A P Read C T Baldwin L A Farrer M Bonduelle

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید